The Angelman syndrome in two brothers

Abstract

We report two brothers with the Angelman syndrome. With the exception of the reports by Kuroki et al, all previously reported cases were sporadic. Overall sex ratio is M1:F1. Genetic heterogeneity may be present. Further data are required to determine emperic recurrence risks after a first occurrence in a family. A few cases may be due to autosomal or X‐linked recessive inheritance. No chromosome abnormality has been found to date.

The behavioural phenotype of Angelman syndrome

“…A number of case reports subsequently documented similar clinical presentations (Bower & Jeavons, 1967;Berg & Pukula, 1972;Moore & Jeavons, 1972;Mayo, Nelson & Townsend, 1973;Kibel & Burness, 1973;Elian, 1975;Kuroki, Matsui, Yamamoto & Leshima, 1980;Dooley, Berg, Pakula & MacGregor, 1981;Pashayan, Singer, Bove, Eisenberg & Seto, 1982;Bjerre, Fagher, Ryding, & Rosen, 1984). In 1982, Williams and Frias suggested that the term initially used, "Happy Puppet", was inappropriate as the child's family may feel the term is derisive, and proposed that the name of the disorder should be changed to "Angelman Syndrome".…”

“…Although the laughing and smiling behaviour is reported to be one of the most salient features of Angelman syndrome, there appears to be a disagreement as to whether it is influenced by the environment (Angelman, 1965;Kibel & Burness, 1973;Kuroki et al, 1980;Bjerre et al, 1984;Willems, Dijkstra, Brouwer & Smit, 1987;Yamada & Volpe, 1990;ClaytonSmith, 1992ClaytonSmith, , 1993Buntinx et al, 1995;Oliver, Demetriades & Hall, 2002), is spontaneous (Berg & Pakula, 1972;Dooley & Pakula, 1981;Elian, 1975;Fryburg, Breg & Lindgren, 1991;Mayo et al, 1973;Pashayan et al, 1982;Williams & Frias, 1982;Bjerre et al, 1984;Summers et al, 1995;Magenis, 1987;Dykens et al, 2000;Cassidy et al, 2000) and/or is inappropriate to the context or environment (Berg & Pukula, 1972;Mayo et al, 1973;Dooley & Pakula, 1981;Bjerre et al, 1984;Magenis et al, 1987;Pashayan et al, 1982;Van Lierde, Atza, Giardino & Vianni, 1990;Fryburg et al, 1991;Zori et al, 1992;Clayton-Smith, 1992Summers et al, 1995;Fung, Cheong, Smith & Trent, 1998;Clarke & Marston, 2000;Fridman et al, 2000a). This disagreement is illustrated in Table 2, which shows the descriptions that have been used to describe this behaviour since the original paper by Angelman in 1965.…”

Angelman syndrome without detectable chromosome 15q11-13 anomaly: Clinical study of familial and isolated cases

“…Clinical findings of 36 familial cases, reported in the literature, are shown in Table II [Kuroki et al, 1980;Hersh et al, 1981;Pashayan et al, 1982;Willems et al, 1987;Fisher et al, 1987;Baraitser et al, 1987;Robb et al, 1989;Imaizumi et al, 1990;Hamabe et al, 1991;Meijers-Heijboer et al, 1992;Zori et al, 1992;Reis et al, 1994]. These data were compared with our familial cases and patients with a cytogenetic or molecular anomaly.…”

Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother

“…Most AS patients have apparently represented sporadic occurrences although affected sibs have been reported on five occasions [Fisher et al, 1987;Hersh et al, 1981;Kuroki et al, 1980;Pashayan et al, 1982;Willems et al, 19871. Recently, the empiric recurrence risk has been estimated by Willems et al [ 19871 to be 1-2% based on study of 48 cases in the literature.…”